Background Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder of phagocytes resulting in impaired killing of bacteria and fungi. A mutation in one of the 4 genes encoding ...the components p22phox , p47phox , p67phox , and p40phox of the leukocyte nicotinamide dinucleotide phosphate reduced (NADPH) oxidase leads to autosomal recessive (AR) CGD. A mutation in the CYBB gene encoding gp91phox leads to X-linked recessive CGD. Objective The aim of this study is to show the correlation between clinical, functional, and genetic data of patients with CGD from Turkey. Methods We report here the results of 89 patients with CGD from 73 Turkish families in a multicenter study. Results Most of the families (55%) have an AR genotype, and 38% have an X-linked genotype; patients from 5 families with a suspected AR genotype (7%) were not fully characterized. We compared patients with CGD according to the severity of NADPH oxidase deficiency of neutrophils. Patients with A220 , A670 or X910 phenotypes with a stimulation index of 1.5 or less have early clinical presentation and younger age at diagnosis (mean, 3.2 years). However, in p47phox -deficient cases and in 5 other AR cases with high residual oxidase activity (stimulation index ≥ 3), later and less severe clinical presentation and older age at diagnosis (mean, 7.1 years) were found. Pulmonary involvement was the most common clinical feature, followed by lymphadenitis and abscesses. Conclusion Later and less severe clinical presentation and older age at diagnosis are related to the residual NADPH oxidase activity of neutrophils and not to the mode of inheritance. CGD caused by A220 and A670 subtypes manifests as severe as the X910 subtype.
Deviations from the predictions of general relativity due to energy-momentum squared gravity (EMSG) are expected to become pronounced in the high density cores of neutron stars. We derive the ...hydrostatic equilibrium equations in EMSG and solve them numerically to obtain the neutron star mass-radius relations for four different realistic equations of state. We use the existing observational measurements of the masses and radii of neutron stars to constrain the free parameter, α, that characterizes the coupling between matter and spacetime in EMSG. We show that −10−38 cm3/erg<α<+10−37 cm3/erg. Under this constraint, we discuss what contributions EMSG can provide to the physics of neutron stars, in particular, their relevance to the so called hyperon puzzle in neutron stars. We also discuss how EMSG alters the dynamics of the early universe from the predictions of the standard cosmological model. We show that EMSG leaves the standard cosmology safely unaltered back to t∼10−4 seconds at which the energy density of the universe is ∼1034 erg cm−3.
Blockade interactions whereby a single particle prevents the flow or excitation of other particles provide a mechanism for control of quantum states, including entanglement of two or more particles. ...Blockade has been observed for electrons, photons and cold atoms. Furthermore, dipolar interactions between highly excited atoms have been proposed as a mechanism for 'Rydberg blockade', which might provide a novel approach to a number of quantum protocols. Dipolar interactions between Rydberg atoms were observed several decades ago and have been studied recently in a many-body regime using cold atoms. However, to harness Rydberg blockade for controlled quantum dynamics, it is necessary to achieve strong interactions between single pairs of atoms. Here, we demonstrate that a single Rydberg-excited rubidium atom blocks excitation of a second atom located more than 10 μm away. The observed probability of double excitation is less than 20%, consistent with a theoretical model of the Rydberg interaction augmented by Monte Carlo simulations that account for experimental imperfections.
Introduction
Elevated fibroblast growth factor-21 (FGF-21) levels are related to carotid intima-media thickness (CIMT), a well-established marker of atherosclerosis. Acromegaly has also been linked ...to increased CIMT. There has been no data considering the association between FGF-21 levels and atherosclerosis in acromegaly patients. This study aimed to evaluate FGF-21 levels and CIMT in acromegalic patients in relation to atherosclerotic complications.
Design
Case–control study.
Materials and methods
The study group included 70 acromegaly patients and 72 healthy volunteers from the Department of Endocrinology and Metabolism Disease, Marmara University Medical School. FGF-21, growth hormone, insulin-like growth factor I, lipids, glucose, insulin levels were assessed. CIMT was measured from the common carotid artery wall on B-mode ultrasound.
Results
Median FGF-21 levels were significantly lower in the acromegaly group than in the control group. CIMT was higher in acromegaly patients compared to controls. Although there was no correlation between FGF-21 levels and CIMT in patients with acromegaly, a positive correlation was found between high-density lipoprotein-cholesterol and FGF-21 levels. Glucose metabolic markers were the determining factors of the FGF-21 levels in acromegaly patients.
Conclusion
Our study is the first to examine the relationship between serum FGF-21 levels and atherosclerosis in acromegaly patients. The lower serum FGF-21 levels in acromegaly subjects might be associated with the improving effects of growth hormone on liver fat. Acromegaly was linked to higher CIMT, but there was no correlation between FGF-21 levels and CIMT. The role of FGF-21 in acromegaly as a marker of atherosclerosis requires additional research.
We make use of coherent control of four-wave mixing to the ultraviolet as a diagnostic and describe the generation of a periodic optical waveform where the spectrum is sufficiently broad that the ...envelope is approximately a single-cycle in length, and where the temporal shape of this envelope may be synthesized by varying the coefficients of a Fourier series. Specifically, using seven sidebands, we report the generation of a train of single-cycle optical pulses with a pulse width of 1.6 fs, a pulse separation of 11 fs, and a peak power of 1 MW.
Cutaneous lesions in patients with mastocytosis are highly heterogeneous and encompass localized and disseminated forms. Although a classification and criteria for cutaneous mastocytosis (CM) have ...been proposed, there remains a need to better define subforms of cutaneous manifestations in patients with mastocytosis. To address this unmet need, an international task force involving experts from different organizations (including the European Competence Network on Mastocytosis; the American Academy of Allergy, Asthma & Immunology; and the European Academy of Allergology and Clinical Immunology) met several times between 2010 and 2014 to discuss the classification and criteria for diagnosis of cutaneous manifestations in patients with mastocytosis. This article provides the major outcomes of these meetings and a proposal for a revised definition and criteria. In particular, we recommend that the typical maculopapular cutaneous lesions (urticaria pigmentosa) should be subdivided into 2 variants, namely a monomorphic variant with small maculopapular lesions, which is typically seen in adult patients, and a polymorphic variant with larger lesions of variable size and shape, which is typically seen in pediatric patients. Clinical observations suggest that the monomorphic variant, if it develops in children, often persists into adulthood, whereas the polymorphic variant may resolve around puberty. This delineation might have important prognostic implications, and its implementation in diagnostic algorithms and future mastocytosis classifications is recommended. Refinements are also suggested for the diagnostic criteria of CM, removal of telangiectasia macularis eruptiva perstans from the current classification of CM, and removal of the adjunct solitary from the term solitary mastocytoma.
Aim
The purpose of this investigation was to understand how visual information, when used to guide muscle activity, influences the frequency content of the neural drive to muscles and the gain of ...afferent feedback.
Methods
Subjects maintained static, isometric contractions of the tibialis anterior muscle by matching a visual display of their ankle dorsiflexion force to a target set at 10% of their maximum voluntary contraction level. Two visual feedback conditions were studied. The first was a high‐sensitivity feedback, in which small changes in force were of large on‐screen visual magnitude. The second was a low‐sensitivity feedback, in which the on‐screen scaling of feedback was reduced by a factor of 10, making small force fluctuations difficult to perceive. Force tremor and Hoffmann reflex (H‐reflex) amplitudes were compared between the two conditions, as well as coherence among single motor unit spike trains derived from high‐density EMG recordings.
Results
The high‐sensitivity feedback condition was associated with lower error, larger force tremor (4–12 Hz) and larger H‐reflex amplitudes relative to the low‐sensitivity feedback condition. In addition, the use of high‐sensitivity feedback was associated with lower 1–5 Hz coherence among pairs of motor units, but larger coherence at high frequencies (6–12, approx. 20, >30 Hz).
Conclusion
Alteration of visual feedback influences nearly the entire frequency spectrum of common input to motor neurones, as well the gain of afferent feedback. We speculate that task‐related modulation of afferent feedback could be the origin of many of the observed changes in the neural drive to muscles.
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